Variant report

Variant	esv3477480
Chromosome Location	chr7:118382696-118391233
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:118382699..118385545-chr7:118387383..118389679,2	K562	blood:
2	chr7:118382699..118385545-chr7:118387383..118389679,2	K562	blood:
3	chr7:118383910..118385815-chr7:118436694..118438479,2	MCF-7	breast:

Extended variants
information (count: 77 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148341930	chr7:118384809-118384810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4727887	chr7:118384841-118384842	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs545810741	chr7:118384912-118384913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181513158	chr7:118384945-118384946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561040287	chr7:118384966-118384967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531834382	chr7:118385008-118385009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141533146	chr7:118385028-118385029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2440898	chr7:118385045-118385046	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568171107	chr7:118385084-118385085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185310813	chr7:118385122-118385123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527830253	chr7:118385159-118385160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547963275	chr7:118385186-118385187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570992657	chr7:118385206-118385207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540104324	chr7:118385243-118385244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550180018	chr7:118385288-118385289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557786188	chr7:118385301-118385302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570344898	chr7:118385324-118385325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537799495	chr7:118385339-118385340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554606309	chr7:118385373-118385374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150891849	chr7:118385377-118385378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138350352	chr7:118385380-118385381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533913913	chr7:118385420-118385421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553914670	chr7:118385423-118385424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142349951	chr7:118385441-118385442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368245610	chr7:118385448-118385449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545999631	chr7:118385479-118385480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577624274	chr7:118385527-118385528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372236658	chr7:118385528-118385529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562603580	chr7:118385633-118385634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571620555	chr7:118385649-118385650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190199392	chr7:118385682-118385683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541822209	chr7:118385702-118385703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145948521	chr7:118385728-118385729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527764892	chr7:118385769-118385770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547604285	chr7:118385778-118385779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564627851	chr7:118385791-118385792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533330736	chr7:118385815-118385816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182385208	chr7:118385893-118385894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570314790	chr7:118385904-118385905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1880158	chr7:118385970-118385971	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs548197422	chr7:118385996-118385997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568094873	chr7:118386023-118386024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533860208	chr7:118386079-118386080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35442256	chr7:118386120-118386121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368609875	chr7:118386172-118386173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557279221	chr7:118386190-118386191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551357984	chr7:118386204-118386205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34208625	chr7:118386231-118386232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186561632	chr7:118386260-118386261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576886002	chr7:118386280-118386281	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118384800-118386800	Enhancers	Dnd41	blood
2	chr7:118385600-118387000	Enhancers	Fetal Lung	lung
3	chr7:118386000-118386200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:118386400-118387000	Enhancers	Fetal Stomach	stomach
5	chr7:118386800-118387000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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